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Amicus Therapeutics Presents Preclinical Data from Studies of,Plicera for Gaucher Disease

GCase levels in various tissues, including the brain, in mice genetically modified to produce the L444P form of the enzyme. In addition, liver and spleen weights were decreased as were plasma levels of chitin III and IgG, which are biomarkers related to Gaucher disease. The L444P is one of the most common mutations associated with Gaucher disease. Gaucher patients with two copies of this mutation typically have neurological symptoms in addition to the visceral symptoms seen in Type I Gaucher disease. About Gaucher Disease

Gaucher disease, the most commonly diagnosed lysosomal storage disorder, is caused by inherited genetic mutations in the GBA gene, which result in deficient activity of the enzyme acid beta-glucosidase, also known as glucocerebrosidase (GCase). Deficient GCase activity leads to lysosomal accumulation of glucocerebroside inside certain cells, which is believed to cause the various symptoms of Gaucher disease, including an enlarged liver and spleen, abnormally low levels of red blood cells and platelets and skeletal complications. In some cases there is significant impairment of the central nervous system. Gaucher disease affects an estimated 8,000 to 10,000 people worldwide. The U.S. Food and Drug Administration's Office of Orphan Products Development has granted orphan drug designation for the active ingredient in Plicera in the United States.

About Amicus Therapeutics

Amicus Therapeutics is a biopharmaceutical company developing novel, oral therapeutics known as pharmacological chaperones for the treatment of a range of human genetic diseases. Pharmacological chaperone technology involves the use of small molecules that selectively bind to and stabilize proteins in cells, leading to improved protein folding and trafficking, and increased activity. Amicus is initially targeting lysosomal storage disorders, which are severe, chronic genetic diseases with unmet med
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